R32S (p.Arg32Ser) variant of GJB2 (Gap junction beta-2 protein)
R32S (p.Arg32Ser) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R32S (p.Arg32Ser) variant details
- p.Arg32Ser
- rs371024165
- ClinGen CA387461995
- ClinVar RCV000664869
- ClinVar RCV000762905
- Pathogenic
- Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthy
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.96
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive nonsyndromic hearing loss 1A; Mutilating ker)
- EBI: Pathogenic (in dbSNP:rs111033190)
- UniProt: Pathogenic (in dbSNP:rs111033190)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)